ClinVar Miner

List of variants in gene ATP13A2 reported as uncertain significance for not specified

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=) rs144557304 0.00127
NM_022089.4(ATP13A2):c.106-8G>A rs200587951 0.00075
NM_022089.4(ATP13A2):c.1352G>A (p.Arg451Gln) rs138546275 0.00029
NM_022089.4(ATP13A2):c.1243C>T (p.Arg415Trp) rs768796427 0.00006
NM_022089.4(ATP13A2):c.1321A>T (p.Ile441Phe) rs772446950 0.00002
NM_022089.4(ATP13A2):c.2368G>A (p.Glu790Lys) rs754208001 0.00002
NM_022089.4(ATP13A2):c.490C>T (p.Arg164Trp) rs199624796 0.00002
NM_022089.4(ATP13A2):c.*207C>T
NM_022089.4(ATP13A2):c.1353+15T>G rs1553168619
NM_022089.4(ATP13A2):c.1353+20T>G rs1553168615
NM_022089.4(ATP13A2):c.3503_3516dup (p.Pro1173fs) rs779637529
NM_022089.4(ATP13A2):c.3535_3536del (p.Leu1179fs)
NM_022089.4(ATP13A2):c.3543G>T (p.Ter1181Tyr)

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